S36A (p.Ser36Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
S36A (p.Ser36Ala) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S36A (p.Ser36Ala) variant details
- p.Ser36Ala
- rs773158640
- ClinGen CA3327435
- ClinVar RCV000802127
- ClinVar RCV002406778
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.21
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM -0.44
- CADD 16.00
- PolyPhen-2 0.84
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)